Brady, S;
Healy, EG;
Gang, Q;
Parton, M;
Quinlivan, R;
Jacob, S;
Curtis, E;
... Holton, JL; + view all
(2016)
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Journal of Neuropathology and Experimental Neurology
, 75
(12)
pp. 1171-1178.
10.1093/jnen/nlw096.
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Abstract
Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a number of genetic mutations have been reported in conditions with tubular aggregates in skeletal muscle. It is widely accepted that tubular aggregates arise from the sarcoplasmic reticulum, but the origin of cylindrical spirals has been less clearly defined. We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals. Our findings support the notion that cylindrical spirals, like tubular aggregates, derive primarily from the sarcoplasmic reticulum; however, immunohistochemistry indicates that different molecular components of the sarcoplasmic reticulum may be involved and can be used to distinguish between these different inclusions. The immunohistochemical differences may also help to guide genetic testing.
| Type: | Article |
|---|---|
| Title: | Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/jnen/nlw096 |
| Publisher version: | https://doi.org/10.1093/jnen/nlw096 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Pathology, Neurosciences & Neurology, Congenital myasthenic syndromes, Cylindrical spirals, Tubular aggregates, Tubular aggregate myopathy, CONGENITAL MYASTHENIC SYNDROME, HUMAN SKELETAL-MUSCLE, SARCOPLASMIC-RETICULUM, CLINICAL-FEATURES, GFPT1 MUTATIONS, DYSFERLIN, EXPRESSION, MYOPATHY, ASSOCIATION, STRESS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1533308 |
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